Gene
HNRNPA2B1
heterogeneous nuclear ribonucleoprotein A2/B1
- HGNC 5033↗(opens in a new tab)
- Ensembl gene ENSG00000122566↗(opens in a new tab)
- NCBI Gene 3181↗(opens in a new tab)
Summary
- Cytogenetic location
- 7p15.2
- Coordinates
- Chromosome 7: 26,189,927–26,200,746 (GRCh38)
- Exons
- 11 exons across 10.8 kb
- Protein
- 341 amino acids
- Inheritance
- Autosomal dominant
- Also known as
- HNRNPA2, HNRNPB1
- Previous symbols
- HNRPA2B1
- MANE Select transcript
- ENST00000618183.5NM_002137.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Distal Myopathies
- VCP multisystem proteinopathy (inclusion body myopathy with Paget disease of bone and frontotemporal dementia)Autosomal dominant
A condition caused by VCP variants that can combine adult-onset muscle weakness with Paget disease of bone and frontotemporal dementia.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
Frontotemporal Dementia
- Autosomal dominant
Frontotemporal dementia (FTD) comprises a group of neurodegenerative disorders, characterized by progressive changes in behavior, executive dysfunction and language impairment, as a result of degeneration of the medial prefrontal and frontoinsular cortices. Four clinical subtypes have been identified: semantic dementia, progressive non-fluent aphasia, behavioral variant FTD and right temporal lobar atrophy.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How HNRNPA2B1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 3.6 kb of the gene's 10.8 kb; 1,026 of those bases code for the protein.
How a genome test reads HNRNPA2B1
2
positions in HNRNPA2B1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 10.8 kb of HNRNPA2B1, introns included, not only the 3.6 kb of exons.
Genes linked to the same conditions
- HNRNPA1heterogeneous nuclear ribonucleoprotein A1Shares 2 conditions
- VCPvalosin containing proteinShares 2 conditions
- CHMP2Bcharged multivesicular body protein 2BShares 1 condition
- GRNgranulin precursorShares 1 condition
- MAPTmicrotubule associated protein tauShares 1 condition
- PSEN1presenilin 1Shares 1 condition
- SQSTM1sequestosome 1Shares 1 condition
Traits linked to HNRNPA2B1
The Human Phenotype Ontology lists these as features of the rare conditions HNRNPA2B1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the musculoskeletal system
- Axial muscle weakness
- Centrally nucleated skeletal muscle fibers
- Muscle tissue disease
- Muscle weakness
- Pagetic bone lesion
- Proximal neurogenic muscle weakness
- Rimmed vacuoles
- EMG: myopathic abnormalities
Show 15 more traits
- Increased variability in muscle fiber diameter
- Prominent swayback
- Weakness of outermost muscles
- Abnormality of the vertebral column
- Breakdown of bone
- Abnormal shape of long bone
- Diffuse skeletal muscle wasting
- EMG: chronic denervation signs
- EMG: neuropathic changes
- Fatty replacement of skeletal muscle
- Increased susceptibility to fractures
- Weakness of muscles of respiration
- Spontaneous fracture
- Muscle degeneration
- Muscle fiber degeneration
Abnormality of the nervous system
- Loss of ability to walk
- Motor delay
- Ubiquitin-positive cerebral inclusion bodies
- Waddling gait
- Brain degeneration
- Cognitive impairment
- Frontotemporal dementia
- Abnormal shape of motor neuron
Show 12 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). HNRNPA2B1 gene: heterogeneous nuclear ribonucleoprotein A2/B1. Retrieved 16 October 2026, from https://dantelabs.com/genes/hnrnpa2b1
Dante Labs. HNRNPA2B1 gene: heterogeneous nuclear ribonucleoprotein A2/B1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hnrnpa2b1
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